Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1 . The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2024 |
Reihe/Periodikum: | Circulation: Genomic and Precision Medicine ; volume 17, issue 3 ; ISSN 2574-8300 |
Verlag/Hrsg.: |
Ovid Technologies (Wolters Kluwer Health)
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Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-29016521 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1161/circgen.122.003978 |